Pseudoangiomatous stromal hyperplasia (PASH) of the breast with foci of morphologic malignancy: a case of PASH with malignant transformation?

Pseudoangiomatous stromal hyperplasia (PASH) is a benign proliferation of the hormonally responsive, specialized mammary stroma characterized by slit-like pseudovascular spaces lined by bland spindle cells. It is usually an incidental microscopic finding but in some cases it may present as a slowly growing mass. A malignant counterpart for this lesion has not been reported. We describe a case of PASH with foci of malignant histologic features presenting as a slowly growing mass in a 30-year-old woman. The previously reported variants of PASH and the other mammary stromal lesions related to PASH are also discussed. This is perhaps the first case of PASH with foci of malignant histologic features reported in the literature and represents a rare sarcoma derived from specialized hormonally responsive mammary stroma.     

Development of a database for the rapid and accurate routine identification of Achromobacter species by matrix-assisted laser desorption/ionization–time-of-flight mass spectrometry (MALDI-TOF MS)

ObjectivesAchromobacter spp. are emerging pathogens in respiratory samples from cystic fibrosis patients. The current reference methods (nrdA-sequencing or multilocus sequence typing) can identify 18 species which are often misidentified by conventional techniques as A. xylosoxidans. A few studies have suggested that matrix-assisted laser desorption/ionization–time-of-flight mass spectrometry (MALDI-TOF/MS) provides accurate identification of the genus but not of species. The aims of this study were (a) to generate a database for MALDI-TOF/MS Bruker including the 18 species, (b) to evaluate the suitability of the database for routine laboratory identification, and (c) to compare its performance with that of the currently available Bruker default database.MethodsA total of 205 isolates belonging to the 18 species identified by nrdA sequencing were used to build a local database. Main spectra profiles (MSPs) were created according to Bruker's recommendations for each isolate with the Biotyper software. Performance of the default Bruker database and ours for routine use were compared by testing 167 strains (including 38 isolates used from MSP creation) belonging to the 18 species identified by nrdA sequencing directly from colonies cultivated on various media.ResultsOur new database accurately identified 99.4% (166/167) of the isolates from the 18 species (score ≥2.0) versus only 50.9% (85/167) with the Bruker database. In the Bruker database 17.3% of the isolates (29/167) were incorrectly identified as another species despite a score of ≥2.0.ConclusionsThe use of MALDI-TOF/MS in combination with a database developed with samples from 18 Achromobacter species provides rapid and accurate identification. This tool could be used to help future clinical studies.     

Metazoan parasites of Micropterus salmoides (Lacépède 1802) (Perciformes,Centrarchidae): a review with evidences of spillover and spillback

Parasitology Research - Among the topics related to invasion science, the least studied are parasite co-introduction and spillback. This leads to an uncertainty in invasion ecology...     

Brachmann-de Lange syndrome (BDLS) with asymmetry and skin pigmentary anomalies: a result of mosaicism for a putative bdls gene mutation?

Brachmann-de Lange syndrome (BDLS, OMIM 122470) is a rare malformation syndrome characterized by mental retardation, short stature, limb abnormalities, and a distinctive craniofacial appearance. There is wide clinical variability and mildly affected patients are common. The genetic basis of BDLS and the reasons for its phenotypical variability are still unknown. We report on a patient with mild BDLS and the unusual findings of asymmetric growth of one body half and irregularly shaped pigmentary anomalies of the skin. These two traits have not been previously described in BDLS but have been associated with phenomena of genetic mosaicism in other conditions. We suggest that this patient's phenotype could be the result of mosaicism for a mutation or submicroscopic deletion affecting one or several genes responsible for BDLS.     

IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles

Mutational analysis of the IDUA gene was performed in a cohort of 102 European patients with mucopolysaccharidosis type I. A total of 54 distinct mutant IDUA alleles were identified, 34 of which were novel including 12 missense mutations, 2 nonsense mutations, 12 splicing mutations, 5 micro-deletions, 1 micro-duplication 1 translational initiation site mutation, and 1 'no-stop' change (p.X654RextX62). Evidence for the pathological significance of all novel mutations identified was sought by means of a range of methodological approaches, including the assessment of evolutionary conservation, RT-PCR/in vitro splicing analysis, MutPred analysis and visual inspection of the 3D-model of the IDUA protein. Taken together, these data not only demonstrate the remarkable mutational heterogeneity characterizing type 1 mucopolysaccharidosis but also illustrate our increasing ability to make deductions pertaining to the genotype-phenotype relationship in disorders manifesting a high degree of allelic heterogeneity.     

Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: Is there a need for routine screening?

Mutations in the methyl-CpG-binding protein 2 (MECP2) cause Rett syndrome, a severe neurodevelopmental disorder occurring predominantly in females. Male patients with Rett syndrome are extremely rare, as the Rett-causing mutations in the MECP2 gene are usually lethal in hemizygous males. However, different mutations in the same gene were reported to cause mental retardation, both in sporadic non-syndromic males as well as in syndromic families with disease manifestation in carrier females. The majority of the reported MECP2 mutations in mentally retarded patients cause amino acid substitutions and, especially in isolated cases, discrimination between a disease-causing mutation and a rare polymorphism is not obvious and the significance of each individual variation should be verified. We mapped a new non-syndromic X-linked family (MRX79) to the chromosomal region Xq27.3-Xq28 and identified an A140V mutation in the MEPC2 gene in all patients with the disease haplotype. In addition to data published by others, this suggests that A140V is a recurrent mutation (and not a polymorphism) found in patients with X-linked mental retardation.     

Absence of Cilia and Basal Bodies with Predominance of Brush Cells in the Respiratory Mucosa from a Patient with Immotile Cilia Syndrome (UP 6:45‐59, 1984)

Advances in the Biology of Disease, Volume One edited by E. Rubin and I. Damjanov Baltimore/London: William &;Wilkins, 1984 208 pages, $40.00

Ultrastructural Effects of Radiation on Tissues and Cells edited by K. E. Carr and T.M. Seed AMF O'HareIll.: Scanning Electron Microscopy, Inc., 1983 $18.00 (U.S.), $20.50 (elsewhere)     

Clinical manifestations correlated to the prevalence of autoantibodies in a large (n=321) cohort of patients with primary Sjögren's syndrome: a comparison of patients initially diagnosed according to the Copenhagen classification criteria with the American-European consensus criteria

In this study we imposed the recently described American-European consensus criteria for primary Sj?gren's syndrome (pSS) on a large cohort of patients originally classified according to the Copenhagen set of criteria. Of the 321 patients fulfilling the Copenhagen criteria, 205 conformed to the Consensus criteria. When comparing clinical manifestations and laboratory findings between the two groups defined by different standards we found only small variations. Thus, the consequence of using the Consensus criteria in daily clinical practice will lead to the exclusion of a considerable proportion of patients with classical features of pSS. The main reason for this discrepancy is probably the absolute requirement of a positive test for anti-Ro/La or a characteristic lymphocytic infiltration in the labial gland biopsy. The sensitivity and specificity of testing for autoantibodies to Ro-52, Ro-60, and La were calculated for each set of criteria. Antibodies to La but not to Ro-52 or Ro-60 were strongly correlated to internal organ (kidney, lung, liver) dysfunction in pSS (OR 6; 95% CI 3-12), p<0.0001. Although presence of ANA was slightly more prevalent among patients with internal organ involvement it did not reach statistical significance. The fine speckled ANA pattern was most often found followed by the homogeneous and centromere pattern. Individual ANA patterns did not correlate with any particular organ manifestation.     

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

A correction has been published to this Article. The PDF and HTML have been updated accordingly.     

Do women with polycystic ovary syndrome (PCOS) report differences in sex-typed behavior as children and adolescents?: Results of a pilot study

Background: The etiology of polycystic ovary syndrome (PCOS) is poorly understood, as is the impact of female hyperandrogenism on psychosocial and psychosexual behavior.

Aim: The present study sought to test whether women with PCOS self-report more masculine sex-typed behavior in childhood, at adolescence, and as adults.

Subjects and methods: Sixty-one women (34 women self-reporting a clinical diagnosis of PCOS and 27 control women not reporting a PCOS diagnosis) completed a questionnaire containing items on childhood sex-typed behavior, adolescent behavior, and present masculinity, femininity and mood.

Results: Results revealed significant differences (p<0.05) in retrospective self-reports of childhood sex-typed behavior and gender conformity according to PCOS status, with women in the PCOS group reporting less feminine childhood behavior, and less gender-typical behavior. A composite of sex-typed behaviors did not differ according to PCOS status at adolescence, although several individual items did. As adults, we found no differences between the groups in masculinity and femininity, although PCOS women reported lower happiness than controls (p<0.05), and trends toward a bisexual orientation and having changed sex orientation more often than controls (p<0.10).

Conclusion: Results of this pilot study provide evidence of PCOS women self-reporting discrete psychosocial developmental patterns compared to non-PCOS women. These differences in retrospective self-reported accounts may be factual or biased by current psychosocial differences, such as depression.     

A randomized controlled trial of a cognitive-behavioural group intervention versus waiting-list control for women with uterovaginal agenesis (Mayer-Rokitansky-Küster-Hauser syndrome: MRKH)

BACKGROUND: Uterovaginal agenesis (Mayer-Rokitansky-Küster-Hauser syndrome: MRKH) is a congenital abnormality of the female genital tract, characterized by the non-formation of the vagina and uterus. There is a widespread agreement that MRKH has a lasting negative psychological impact on women with this condition, but as yet little is known about how to conceptualize and manage this. We developed a cognitive-behavioural group treatment (CBT) of MRKH. The aim of the present study was to determine whether this intervention, compared to waiting-list control, improves psychosocial outcomes in women with MRKH. METHODS: After stratifying for age and type of MRKH (simple or complex), 39 women with MRKH were randomized to group CBT (n = 19) or waiting list (n = 20). Outcomes were assessed at pre-treatment, post-treatment (7 weeks) and at 3 months follow-up. The main outcome measure was the Symptom Check-List (SCL-90-R). Other outcomes included impact of event, self-esteem and interpersonal functioning. RESULTS: Participants allocated to group CBT showed significantly reduced psychological symptoms on the SCL-90-R and non-significant improvements on all secondary outcomes at the end of treatment and follow-up, whereas those on the waiting list remained unchanged. CONCLUSIONS: A group CBT intervention improves psychological outcomes in MRKH. This treatment may also be applicable to other gynaecological conditions.     

A surface replica method: a useful tool for studies of the cytoskeletal network in red cell membranes of normal subjects and patients with a β-spectrin mutant (spectrin Le Puy: β220/214)

Visualization of the components of the red cell membranes, and especially the structure of cytoskeletal proteins in situ, has become a requisite in studies of red cell membrane disorders. There has been a search for a consistent and dependable method for detecting these structures. In the present study, the surface replica method was used with transmission electron microscopy to examine the cytoskeletal network of the red cell ghosts of a normal control and patients with a -spectrin mutant (-spectrin Le Puy). The surface replica method is well-suited to observation of the cytoskeletal network of the membranes in a nearly native in situ condition. Immunogold labelling with anti-membrane protein antibodies is easily applicable to the identification of each component of the cytoskeletal proteins. The findings obtained under normal and pathological conditions using the surface replica method corresponded with those made by the quick-freeze, deep-etching method.